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Mayr, Johannes
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1

Deoxyguanosine kinase deficiency: natural history and liver..:

Manzoni, Eleonora ; Carli, Sara ; Gaignard, Pauline...
Brain Communications.  6 (2024)  3 - p. , 2024
Link: https://doi.org/10.1093/..
 
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2

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis..:

Smith, Claire E L ; Laugel-Haushalter, Virginie ; Hany, Ummey...
Journal of Medical Genetics.  61 (2024)  7 - p. 689-698 , 2024
Link: https://doi.org/10.1136/..
 
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3

Response to Kulseth:

Vogel, Georg F. ; Feichtinger, René G. ; Mayr, Johannes A..
Genetics in Medicine.  26 (2024)  3 - p. 101040 , 2024
Link: https://doi.org/10.1016/..
 
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4

Biallelic Cys141Tyr variant of SEL1L is associated with neu..:

Weis, Denisa ; Lin, Liangguang L. ; Wang, Huilun H....
Journal of Clinical Investigation.  134 (2024)  2 - p. , 2024
Link: https://doi.org/10.1172/..
 
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5

The Learning of Teachers: Use and Usefulness of Learning Op..:

Röhl, Sebastian ; Cramer, Colin ; Mayr, Johannes
Zeitschrift für Bildungsforschung.  14 (2024)  1 - p. 71-94 , 2024
Link: https://doi.org/10.1007/..
 
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6

The phenotypic spectrum of PTCD3 deficiency:

Lace, Baiba ; Faqeih, Eissa ; Kaya, Namik...
JIMD Reports.  , 2024
Link: https://doi.org/10.1002/..
 
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7

Operative management of sacroiliac joint dislocation in chi..:

Wang, Yanjiang ; DU, Xiaojie ; Tomaszewski, Ryszard..
Journal of Orthopaedics.  52 (2024)  - p. 6-11 , 2024
Link: https://doi.org/10.1016/..
 
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8

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suff..:

Penkl, Maximilian ; Mayr, Johannes A. ; Feichtinger, René G....
Metabolites.  14 (2024)  4 - p. 238 , 2024
Link: https://doi.org/10.3390/..
 
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9

Diametaphyseal Distal Forearm Fractures in Children: A STRO..:

Wollkopf, Andreas D. P. ; Halbeisen, Florian S. ; Holland-Cunz, Stefan G..
Children.  10 (2023)  2 - p. 374 , 2023
Link: https://doi.org/10.3390/..
 
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10

Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E....
Genetics in Medicine.  25 (2023)  6 - p. 100828 , 2023
Link: https://doi.org/10.1016/..
 
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11

Case Report—An Inherited Loss-of-Function NRXN3 Variant Pot..:

Feichtinger, René G. ; Preisel, Martin ; Brugger, Karin..
Genes.  14 (2023)  6 - p. 1217 , 2023
Link: https://doi.org/10.3390/..
 
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12

Expanding the phenotypic and biochemical spectrum of NDUFAF..:

van der Ven, Amelie T. ; Cabrera-Orefice, Alfredo ; Wente, Isabell...
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107675 , 2023
Link: https://doi.org/10.1016/..
 
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13

Investigating the role of ASCC1 in the causation of bone fr..:

Voraberger, Barbara ; Mayr, Johannes A. ; Fratzl-Zelman, Nadja...
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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14

Complex I, V, and MDH2 deficient human skin fibroblasts rev..:

Meyer, Christoph ; Hertig, Damian ; Arnold, Janine...
Journal of Inherited Metabolic Disease.  47 (2023)  2 - p. 270-279 , 2023
Link: https://doi.org/10.1002/..
 
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15

PPA1 Deficiency Causes a Deranged Galactose Metabolism Reco..:

Achleitner, Melanie T. ; Jans, Judith J. M. ; Ebner, Laura...
Metabolites.  13 (2023)  11 - p. 1141 , 2023
Link: https://doi.org/10.3390/..
 
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